Frontiers in Genetics (Aug 2020)
A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
- Martin Jouza,
- Martin Jouza,
- Tomas Jimramovsky,
- Tomas Jimramovsky,
- Eva Sloukova,
- Eva Sloukova,
- Jakub Pecl,
- Jakub Pecl,
- Anna Seehofnerova,
- Anna Seehofnerova,
- Marta Jezova,
- Milan Urik,
- Milan Urik,
- Lumir Kunovsky,
- Lumir Kunovsky,
- Lumir Kunovsky,
- Katerina Slaba,
- Katerina Slaba,
- Petr Stourac,
- Petr Stourac,
- Martina Klincova,
- Martina Klincova,
- Jaroslav A. Hubacek,
- Jaroslav A. Hubacek,
- Petr Jabandziev,
- Petr Jabandziev,
- Petr Jabandziev
Affiliations
- Martin Jouza
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Martin Jouza
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Tomas Jimramovsky
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Tomas Jimramovsky
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Eva Sloukova
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Eva Sloukova
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Jakub Pecl
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Jakub Pecl
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Anna Seehofnerova
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Anna Seehofnerova
- Department of Pediatric Radiology, University Hospital Brno, Brno, Czechia
- Marta Jezova
- Department of Pathology, University Hospital Brno, Brno, Czechia
- Milan Urik
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Milan Urik
- Department of Pediatric Otorhinolaryngology, University Hospital Brno, Brno, Czechia
- Lumir Kunovsky
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Lumir Kunovsky
- Department of Gastroenterology and Internal Medicine, University Hospital Brno, Brno, Czechia
- Lumir Kunovsky
- Department of Surgery, University Hospital Brno, Brno, Czechia
- Katerina Slaba
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Katerina Slaba
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Petr Stourac
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Petr Stourac
- Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno, Brno, Czechia
- Martina Klincova
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Martina Klincova
- Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno, Brno, Czechia
- Jaroslav A. Hubacek
- Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czechia
- Jaroslav A. Hubacek
- 03rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czechia
- Petr Jabandziev
- Department of Pediatrics, University Hospital Brno, Brno, Czechia
- Petr Jabandziev
- Faculty of Medicine, Masaryk University, Brno, Czechia
- Petr Jabandziev
- 1Central European Institute of Technology, Brno, Czechia
- DOI
- https://doi.org/10.3389/fgene.2020.568303
- Journal volume & issue
-
Vol. 11
Abstract
Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.
Keywords
